Wiseman Daniel H, Bonney Denise K, Wynn Robert F
Department of Haematology & Oncology, Royal Manchester Children's Hospital, Manchester, UK.
J Pediatr Hematol Oncol. 2012 Oct;34(7):576-80. doi: 10.1097/MPH.0b013e318245a027.
Acute megakaryoblastic leukemia is a rare variant of acute myeloid leukemia, whereby leukemic blasts display characteristic morphologic and phenotypic features indicating megakaryocytoid differentiation. A distinct entity characterized by the t(1;22)(p13;q13) translocation, resulting in the RBM15-MKL1 fusion oncogene, has been recently recognized. This is predominantly a disease afflicting infants and displays characteristic clinical features. We present a case of acute megakaryoblastic leukemia with t(1;22)(p13;q13) along with a discussion of the current understanding of the molecular biology of RBM15-MKL1. This case also displayed striking and unusual morphologic appearances including extensive hemophagocytosis by leukemic blasts, which has not been previously reported for this particular type of leukemia.
急性巨核细胞白血病是急性髓系白血病的一种罕见变异型，白血病原始细胞表现出特征性的形态学和表型特征，提示巨核细胞样分化。最近已认识到一种以t(1;22)(p13;q13)易位为特征的独特实体，该易位导致RBM15-MKL1融合致癌基因。这主要是一种累及婴儿的疾病，并表现出特征性临床特征。我们报告1例伴有t(1;22)(p13;q13)的急性巨核细胞白血病病例，并讨论目前对RBM15-MKL1分子生物学的认识。该病例还表现出显著且不寻常的形态学表现，包括白血病原始细胞广泛噬血细胞现象，这在这种特殊类型的白血病中此前尚未见报道。
